Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A

IJMS, Free Full-Text

Healthcare, Free Full-Text

Genetic Testing - NPUK

Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts

PDF) The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study

IJMS, Free Full-Text

From new screens to discovered genes: The successful past and promising present of single gene disorders - Roe - 2007 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

227 PDFs Review articles in TYPE B NIEMANN-PICK DISEASE

PDF) Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine